Variant report

Variant	rs818803
Chromosome Location	chr7:16795114-16795115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
2	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
3	chr7:16685517..16687243-chr7:16793230..16795207,2	K562	blood:
4	chr7:16793269..16796429-chr7:16820580..16823340,4	MCF-7	breast:
5	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
6	chr7:16735197..16737056-chr7:16793469..16795532,2	MCF-7	breast:
7	chr7:16794915..16798218-chr7:16804001..16806170,3	MCF-7	breast:
8	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
9	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
10	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
11	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:
12	chr7:16785410..16787895-chr7:16793449..16795182,2	MCF-7	breast:
13	chr7:16793190..16795518-chr7:16923523..16926249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000106537	Chromatin interaction
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10233465	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10238328	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1149519	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1149522	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1149524	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1149526	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12530923	0.85[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12535558	0.81[ASN][1000 genomes]
rs13244013	0.83[ASN][1000 genomes]
rs1997114	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1997115	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085706	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290836	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2290837	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs34614062	0.81[ASN][1000 genomes]
rs3779051	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807490	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807492	0.91[JPT][hapmap]
rs3807509	0.82[GIH][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs3823652	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4400279	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4721535	0.87[ASN][1000 genomes]
rs4721536	0.86[ASN][1000 genomes]
rs4721538	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4721539	0.91[JPT][hapmap]
rs55802535	0.96[ASN][1000 genomes]
rs62441050	0.91[EUR][1000 genomes]
rs6461275	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6942785	0.83[ASN][1000 genomes]
rs6951449	0.91[JPT][hapmap];0.83[MEX][hapmap]
rs6962578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975847	0.82[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6980298	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706055	0.87[ASN][1000 genomes]
rs73299615	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781646	1.00[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7809197	0.88[ASN][1000 genomes]
rs818804	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv824019	chr7:16794489-16800589	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3475740	chr7:16794549-16800628	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3475741	chr7:16794549-16800658	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3475739	chr7:16794552-16800658	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv520554	chr7:16795114-16795564	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1815282	chr7:16795114-16797440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1816361	chr7:16795114-16797440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1819982	chr7:16795114-16797440	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1821161	chr7:16795114-16797440	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv1821701	chr7:16795114-16797440	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs818803	TWIST1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16795200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:16792800-16795400	Active TSS	Right Atrium	heart
3	chr7:16792800-16795600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:16792800-16796200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:16792800-16796400	Active TSS	Fetal Intestine Small	intestine
6	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
8	chr7:16793000-16795200	Active TSS	Brain Anterior Caudate	brain
9	chr7:16793000-16795400	Active TSS	Right Ventricle	heart
10	chr7:16793000-16795600	Active TSS	Fetal Intestine Large	intestine
11	chr7:16793000-16796000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:16794000-16795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:16794200-16795200	Flanking Active TSS	K562	blood
15	chr7:16794200-16795200	Flanking Active TSS	NH-A	brain
16	chr7:16794400-16795200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:16794400-16795200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr7:16794400-16795200	Flanking Active TSS	Fetal Heart	heart
19	chr7:16794400-16795200	Active TSS	Psoas Muscle	Psoas
20	chr7:16794400-16796400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:16794600-16795200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:16794600-16795200	Active TSS	Fetal Muscle Trunk	muscle
23	chr7:16794600-16795800	Weak transcription	NHDF-Ad	bronchial
24	chr7:16794600-16796200	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:16794600-16796200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:16794800-16795200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:16794800-16795200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:16794800-16795200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:16794800-16795200	Enhancers	A549	lung
30	chr7:16794800-16796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:16794800-16796200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:16794800-16796400	Enhancers	Osteobl	bone
33	chr7:16794800-16798800	Weak transcription	Gastric	stomach
34	chr7:16795000-16795200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:16795000-16795200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:16795000-16795200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:16795000-16795200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr7:16795000-16795200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:16795000-16795200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr7:16795000-16795200	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr7:16795000-16795200	Flanking Active TSS	Fetal Brain Male	brain
42	chr7:16795000-16795200	Active TSS	Fetal Muscle Leg	muscle
43	chr7:16795000-16795200	Enhancers	NHEK	skin
44	chr7:16795000-16795400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:16795000-16795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:16795000-16795800	Weak transcription	Pancreas	Pancrea
47	chr7:16795000-16796000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:16795000-16796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:16795000-16796000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:16795000-16796000	Weak transcription	Fetal Kidney	kidney

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